research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
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research Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant
A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.
research Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.
Narrowband UVB therapy significantly improved a child's rare skin condition.
research Biotin and biotinidase deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency
Biotin supplements can effectively treat hair loss and skin issues in certain enzyme deficiencies.
research Activation of Polyamine Catabolism Profoundly Alters Tissue Polyamine Pools and Affects Hair Growth and Female Fertility in Transgenic Mice Overexpressing Spermidine/SpermineN 1-Acetyltransferase
Overexpressing a specific enzyme in mice causes hair loss and female infertility.
research Serum and hair zinc in cystic fibrosis.
CF patients with growth issues have more zinc in their hair than those with normal growth.
research Monilethrix in monozygotic twins with very rare mutation in KRT 86 gene
Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.
research Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome
A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
research [Low dosage retinol and L-cystine combination improve alopecia of the diffuse type following long-term oral administration].
Retinol and L-cystine improve diffuse hair loss without side effects.
research Recent advances in thiasteroids chemistry
New sulfur-containing steroid analogs show promise for more targeted medical treatments.
research Spinal and bulbar muscular atrophy: pathogenesis and clinical management
Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Repeatable Perming via Thiol–Michael Click Reaction: Using Amide Derived from Maleic Acid and Cystine
A new perming method is less damaging to hair and works as well as traditional methods.
research Improvement of Satoyoshi syndrome with tacrolimus and corticosteroids
Tacrolimus and corticosteroids can improve symptoms of Satoyoshi syndrome.
research Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Characterization of an autoimmune condition associated with AEC syndrome
Controlling Tslp can improve health in AEC syndrome patients.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
research Alopecia in Cronkhite-Canada syndrome
Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle.
Two specific genes are more active during hair growth in mice.
research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
research Deletion of adipocyte Sine Oculis Homeobox Homolog 1 prevents lipolysis and attenuates skin fibrosis
Removing SIX1 in fat cells reduces skin fibrosis.
research Index of Suspicion
A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.